The beta-thalassemia mutations of 13 unrelated heterozygous Germans who remained unidentified in a previous study of 40 subjects were investigated at the DNA level. Two Mediterranean, one Asian and three novel mutations (CD6 -G, CDs 108 /112-12nt, CDs 130/131 + GCCT) were identified. Altogether, in
Mediterranean types of β-thalassemia in the German population
✍ Scribed by Marion Laig; Michael Pape; Joachim Hundrieser; Gebhard Flatz
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 278 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
Forty beta-thalassemia genes from unrelated German heterozygotes with no known foreign ancestry were examined using the oligonucleotide technique and DNA restriction analysis, with the aim of determining the contribution of Mediterranean beta-thalassemia mutations to the prevalence of this trait in the German population. Of the 40 beta-thalassemia genes, 26 were identified as Mediterranean types (20 beta 39 nonsense, 3 IVS2 nt 110, 2 IVS2 nt1, 1 IVS1 ntl G----A). The geographic distribution of the birthplaces of the probands' grandparents revealed no difference in the proportion of Mediterranean and unidentified beta-thalassemia genes in the west and the north of Germany.
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